Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02320:Ccsap'

288207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccsap

Ensembl Gene

ENSMUSG00000031971

Gene Name

centriole, cilia and spindle associated protein

Synonyms

1700054N08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02320

Quality Score

Status

Chromosome

Chromosomal Location

124567570-124586948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124569177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 221 (H221Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034452] [ENSMUST00000122421] [ENSMUST00000127664]

AlphaFold

Q8QZT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034452
AA Change: H221Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034452
Gene: ENSMUSG00000031971
AA Change: H221Q

Domain	Start	End	E-Value	Type
low complexity region	27	41	N/A	INTRINSIC
low complexity region	54	68	N/A	INTRINSIC
low complexity region	107	125	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122421
AA Change: H221Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113319
Gene: ENSMUSG00000031971
AA Change: H221Q

Domain	Start	End	E-Value	Type
Pfam:CCSAP	7	251	6.2e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138442

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,445,961 (GRCm39)	S146P	probably damaging	Het
Ap1m2	A	T	9: 21,210,620 (GRCm39)	Y336*	probably null	Het
Arap1	T	C	7: 101,034,236 (GRCm39)	L226P	probably benign	Het
Cacna1c	T	A	6: 118,614,753 (GRCm39)	N1150Y	probably damaging	Het
Ceacam3	T	A	7: 16,895,865 (GRCm39)	Y612N	probably benign	Het
Col12a1	A	G	9: 79,523,303 (GRCm39)		probably null	Het
Ddx23	T	C	15: 98,548,819 (GRCm39)	T328A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,570 (GRCm39)	M252K	probably damaging	Het
Fpr2	A	C	17: 18,113,608 (GRCm39)	R201S	probably benign	Het
Ighv1-20	A	G	12: 114,687,463 (GRCm39)	S94P	probably damaging	Het
Itgb7	A	C	15: 102,132,772 (GRCm39)	V180G	probably benign	Het
Mmp13	G	T	9: 7,278,941 (GRCm39)	R344L	probably benign	Het
Mucl3	A	T	17: 35,948,332 (GRCm39)	N422K	probably benign	Het
Ncam2	C	T	16: 81,231,725 (GRCm39)	S63L	probably damaging	Het
Or5p52	C	T	7: 107,502,038 (GRCm39)	T38I	possibly damaging	Het
Pde9a	G	A	17: 31,678,059 (GRCm39)	C187Y	probably damaging	Het
Sh2b1	A	G	7: 126,068,341 (GRCm39)	L490P	probably benign	Het
Shank2	A	G	7: 143,974,681 (GRCm39)	T1193A	probably damaging	Het
Shisa2	T	A	14: 59,867,246 (GRCm39)	M166K	probably damaging	Het
Smg7	A	T	1: 152,744,088 (GRCm39)	S40T	possibly damaging	Het
Spef2	A	C	15: 9,717,662 (GRCm39)	S285A	probably damaging	Het
Tlcd3a	A	G	11: 76,096,231 (GRCm39)	M120V	probably damaging	Het
Trgv7	C	A	13: 19,362,249 (GRCm39)	P13Q	unknown	Het
Ttn	A	G	2: 76,769,656 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,884 (GRCm39)		probably null	Het
Vars2	A	G	17: 35,971,346 (GRCm39)	V212A	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Wwc2	A	G	8: 48,316,882 (GRCm39)		probably null	Het
Zbed6	T	C	1: 133,585,411 (GRCm39)	N642S	probably damaging	Het
Zfp423	A	T	8: 88,508,230 (GRCm39)	C580S	probably damaging	Het
Zfp64	A	G	2: 168,768,118 (GRCm39)	V498A	probably damaging	Het

Other mutations in Ccsap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ccsap	APN	8	124,585,969 (GRCm39)	missense	probably damaging	0.99
IGL02259:Ccsap	APN	8	124,572,166 (GRCm39)	missense	possibly damaging	0.50
R3726:Ccsap	UTSW	8	124,586,100 (GRCm39)	missense	possibly damaging	0.68
R4890:Ccsap	UTSW	8	124,572,160 (GRCm39)	missense	possibly damaging	0.48
R7627:Ccsap	UTSW	8	124,569,097 (GRCm39)	missense	probably damaging	1.00
R8290:Ccsap	UTSW	8	124,585,986 (GRCm39)	missense	probably benign
R9727:Ccsap	UTSW	8	124,572,169 (GRCm39)	missense	possibly damaging	0.68

Posted On

2015-04-16